Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

Journal Article · Mon Nov 30 23:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:7063374

Eisensmith, R C; Woo, S L.C. ^[1]

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1. Baylor College of Medicine, Houston, TX (United States)

Analysis of mutant PAH chromosomes has identified approximately 60 different single-base substitutions and deletions within the PAH locus. Nearly all of these molecular lesions are in strong linkage disequilibrium with specific RFLP haplotypes in different ethnic populations. Thus, haplotype analysis is not only useful for diagnostic purposes but is proving to be a valuable tool in population genetic studies of the origin and spread of phenylketonuria alleles in human populations. PCR-based methods have been developed to detect six of the eight polymorphic restriction sites used for determination of RFLP haplotypes at the PAH locus. A table of the proposed expanded haplotypes is given.

• OSTI ID: 7063374
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:6; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
BIOLOGICAL VARIABILITY
CARBOXYLIC ACIDS
CHROMOSOMES
DISEASES
ENZYMES
GENES
GENETIC VARIABILITY
HUMAN POPULATIONS
HYDROXYLASES
METABOLIC DISEASES
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORIGIN
OXIDOREDUCTASES
PHENYLALANINE
POPULATIONS
PROTEINS
RFLPS